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PRX Antibody

Unavailable
  • 货号：
    CSB-PA018656GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q9BXM0
  • 基因名：
    PRX
  • 别名：
    CMT4F antibody; KIAA1620 antibody; Periaxin antibody; PRAX_HUMAN antibody; Prx antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human Prx III
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    Scaffolding protein that functions as part of a dystroglycan complex in Schwann cells, and as part of EZR and AHNAK-containing complexes in eye lens fiber cells. Required for the maintenance of the peripheral myelin sheath that is essential for normal transmission of nerve impulses and normal perception of sensory stimuli. Required for normal transport of MBP mRNA from the perinuclear to the paranodal regions. Required for normal remyelination after nerve injury. Required for normal elongation of Schwann cells and normal length of the internodes between the nodes of Ranvier. The demyelinated nodes of Ranvier permit saltatory transmission of nerve impulses; shorter internodes cause slower transmission of nerve impulses. Required for the formation of appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane; the Schwann cell cytoplasm is restricted to regions between these appositions. Required for the formation of Cajal bands and of Schmidt-Lanterman incisures that correspond to short, cytoplasm-filled regions on myelinated nerves. Recruits DRP2 to the Schwann cell plasma membrane. Required for normal protein composition of the eye lens fiber cell plasma membrane and normal eye lens fiber cell morphology.
  • 基因功能参考文献：
    1. The study identified a variant of periaxin in a Chinese family with congenital cataract by exome sequencing. PMID: 27081207
    2. results offer a possible mechanism to the formation of periaxin complexes, improvement of complex stability, and establishment of a link between the extracellular matrix and the cytoskeleton PMID: 26940996
    3. we were able to simplify this complex phenotype and identified a causative mutation (p.R1070*) in the gene periaxin (PRX), a gene previously shown to cause peripheral neuropathy (Dejerine-Sottas syndrome) when this mutation is present PMID: 26059842
    4. Study of the periaxin gene should be considered in patients with severe demyelinating neuropathy associated with early infantile scoliosis. PMID: 24011642
    5. a variation of clinical phenotypes for CMT4F caused by a novel, nonsense PRX mutation, was shown. PMID: 22847150
    6. Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes. PMID: 21741241
    7. In this review, periaxin protein is required for the maintenance of peripheral nerve myelin; however, patients with PRX mutations have early-onset autosomal recessive demyelinating Charcot-Marie-Tooth disease or Dejerine-Sottas neuropathy. PMID: 21079185
    8. novel mutation in vocal cord paralysis PMID: 19950375
    9. Results indicate a prominent sensory neuropathy resulting from periaxin gene mutations and suggests a role for the carboxyl terminal domain of the periaxin protein. PMID: 12112076
    10. Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease PMID: 15197604
    11. S399fsX410 mutation in the PRX gene and its effects at the protein level, which was identified in an 8-year-old patient with early-onsetCharcot-Marie-Tooth type 4F disease. PMID: 16534116
    12. A PRX mutation in Japanese patients is presented. PMID: 16770524
    13. Data show that the mutations in the periaxin (PRX) gene is associated with early-onset demyelinating AR-CMT and severe sensory loss. PMID: 18504680

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  • 相关疾病：
    Dejerine-Sottas syndrome (DSS); Charcot-Marie-Tooth disease 4F (CMT4F)
  • 亚细胞定位：
    [Isoform 1]: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Nucleus. Cytoplasm.; [Isoform 2]: Cytoplasm.; Cell membrane. Cell junction.
  • 蛋白家族：
    Periaxin family
  • 组织特异性：
    Detected in spinal cord. Isoform 1 and isoform 2 are found in sciatic nerve and Schwann cells.
  • 数据库链接：

    HGNC: 13797

    OMIM: 145900

    KEGG: hsa:57716

    STRING: 9606.ENSP00000326018

    UniGene: Hs.205457